华南地区汉族人群MDR1基因单核苷酸多态性研究

 多药耐药基因1（MDR1）单核苷酸多态性（SNP）与疾病的易感性、药物治疗效果以及患者的生存复发等预后密切相关。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和聚合酶链反应-单链构象多态性（PCR-SSCP）方法，对华南地区无亲缘关系的汉族人群MDR1基因编码区及部分启动子区进行SNP筛查，并比较不同人种间等位基因频率的差异。结果共检测出5个多态位点：T-2410C、T-129C、C1236T、G2677T/A和C3435T，其等位基因频率-2410C为4.65%，-129C为3.11%，1236T为63.31%，2677T为44.66%，2677A为14.47%，3435T为41.18%。除T-2410C位点因报道的太少无法比较外，其余位点等位基因频率在东亚、高加索以及非洲人群中的分布存在显著差异。该研究为进一步研究华南地区汉族人群MDR1基因SNP与药物效果、药物毒副作用以及疾病易感性之间的相关性提供依据。

MDR1 Gene Single Nucleotide Polymorphism in Southern China Han Population

Single nucleotide polymorphisms (SNPs) in multiple drug resistance 1 (MDR1) gene are associated with disease susceptibility, drug response and clinical outcome such as survival and recurrence. We conducted a systemic screen for sequence variations in all exons and part of promoter region of MDR1 gene by PCR RFLP and PCR SSCP in the Han population from Southern China. Genotype distribution differences among different ethnicity were tested by chi square test. Five different SNPs were detected. They are T-2410C，T-129C，C1236T，G2677T/A and C3435T. The frequency of -2410C allele is 4.65%, -129C allele is 3.11%，1236T allele is 63.31%, 2677T allele is 44.66%, 2677A allele is 14.47%, 3435T allele is 41.18%. Dramatic difference was observed in the allele distribution among different ethic populations. MDR1–2410T/C was excluded for its rare reporting. These data may be used as a basis for studies on the relationship between 〖WTBX〗MDR1〖WTBZ〗 genotypes and drug efficacy, drug toxicity, disease susceptibility in Southern China Han populations.